Dataset Information

MetabolicMine: an integrated genomics, genetics and proteomics data warehouse for common metabolic disease research.

ABSTRACT: Common metabolic and endocrine diseases such as diabetes affect millions of people worldwide and have a major health impact, frequently leading to complications and mortality. In a search for better prevention and treatment, there is ongoing research into the underlying molecular and genetic bases of these complex human diseases, as well as into the links with risk factors such as obesity. Although an increasing number of relevant genomic and proteomic data sets have become available, the quantity and diversity of the data make their efficient exploitation challenging. Here, we present metabolicMine, a data warehouse with a specific focus on the genomics, genetics and proteomics of common metabolic diseases. Developed in collaboration with leading UK metabolic disease groups, metabolicMine integrates data sets from a range of experiments and model organisms alongside tools for exploring them. The current version brings together information covering genes, proteins, orthologues, interactions, gene expression, pathways, ontologies, diseases, genome-wide association studies and single nucleotide polymorphisms. Although the emphasis is on human data, key data sets from mouse and rat are included. These are complemented by interoperation with the RatMine rat genomics database, with a corresponding mouse version under development by the Mouse Genome Informatics (MGI) group. The web interface contains a number of features including keyword search, a library of Search Forms, the QueryBuilder and list analysis tools. This provides researchers with many different ways to analyse, view and flexibly export data. Programming interfaces and automatic code generation in several languages are supported, and many of the features of the web interface are available through web services. The combination of diverse data sets integrated with analysis tools and a powerful query system makes metabolicMine a valuable research resource. The web interface makes it accessible to first-time users, whereas the Application Programming Interface (API) and web services provide convenient data access and tools for bioinformaticians. metabolicMine is freely available online at http://www.metabolicmine.org Database URL: http://www.metabolicmine.org.

SUBMITTER: Lyne M

PROVIDER: S-EPMC4438919 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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metabolicMine: an integrated genomics, genetics and proteomics data warehouse for common metabolic disease research.

Lyne Mike M Smith Richard N RN Lyne Rachel R Aleksic Jelena J Hu Fengyuan F Kalderimis Alex A Stepan Radek R Micklem Gos G

Database : the journal of biological databases and curation 20130809

Common metabolic and endocrine diseases such as diabetes affect millions of people worldwide and have a major health impact, frequently leading to complications and mortality. In a search for better prevention and treatment, there is ongoing research into the underlying molecular and genetic bases of these complex human diseases, as well as into the links with risk factors such as obesity. Although an increasing number of relevant genomic and proteomic data sets have become available, the quanti ...[more]

PMID: 23935057

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Project description:BACKGROUND:Health services researchers spend a substantial amount of time performing integration, cleansing, interpretation, and aggregation of raw data from multiple public or private data sources. Often, each researcher (or someone in their team) duplicates this effort for their own project, facing the same challenges and experiencing the same pitfalls discovered by those before them. OBJECTIVE:This paper described a design process for creating a data warehouse that includes the most frequently used databases in health services research. METHODS:The design is based on a conceptual iterative process model framework that utilizes the sociotechnical systems theory approach and includes the capacity for subsequent updates of the existing data sources and the addition of new ones. We introduce the theory and the framework and then explain how they are used to inform the methodology of this study. RESULTS:The application of the iterative process model to the design research process of problem identification and solution design for the Healthcare Research and Analytics Data Infrastructure Solution (HRADIS) is described. Each phase of the iterative model produced end products to inform the implementation of HRADIS. The analysis phase produced the problem statement and requirements documents. The projection phase produced a list of tasks and goals for the ideal system. Finally, the synthesis phase provided the process for a plan to implement HRADIS. HRADIS structures and integrates data dictionaries provided by the data sources, allowing the creation of dimensions and measures for a multidimensional business intelligence system. We discuss how HRADIS is complemented with a set of data mining, analytics, and visualization tools to enable researchers to more efficiently apply multiple methods to a given research project. HRADIS also includes a built-in security and account management framework for data governance purposes to ensure customized authorization depending on user roles and parts of the data the roles are authorized to access. CONCLUSIONS:To address existing inefficiencies during the obtaining, extracting, preprocessing, cleansing, and filtering stages of data processing in health services research, we envision HRADIS as a full-service data warehouse integrating frequently used data sources, processes, and methods along with a variety of data analytics and visualization tools. This paper presents the application of the iterative process model to build such a solution. It also includes a discussion on several prominent issues, lessons learned, reflections and recommendations, and future considerations, as this model was applied.

Project description:BackgroundIntegrated data repositories (IDRs), also referred to as clinical data warehouses, are platforms used for the integration of several data sources through specialized analytical tools that facilitate data processing and analysis. IDRs offer several opportunities for clinical data reuse, and the number of institutions implementing an IDR has grown steadily in the past decade.ObjectiveThe architectural choices of major IDRs are highly diverse and determining their differences can be overwhelming. This review aims to explore the underlying models and common features of IDRs, provide a high-level overview for those entering the field, and propose a set of guiding principles for small- to medium-sized health institutions embarking on IDR implementation.MethodsWe reviewed manuscripts published in peer-reviewed scientific literature between 2008 and 2020, and selected those that specifically describe IDR architectures. Of 255 shortlisted articles, we found 34 articles describing 29 different architectures. The different IDRs were analyzed for common features and classified according to their data processing and integration solution choices.ResultsDespite common trends in the selection of standard terminologies and data models, the IDRs examined showed heterogeneity in the underlying architecture design. We identified 4 common architecture models that use different approaches for data processing and integration. These different approaches were driven by a variety of features such as data sources, whether the IDR was for a single institution or a collaborative project, the intended primary data user, and purpose (research-only or including clinical or operational decision making).ConclusionsIDR implementations are diverse and complex undertakings, which benefit from being preceded by an evaluation of requirements and definition of scope in the early planning stage. Factors such as data source diversity and intended users of the IDR influence data flow and synchronization, both of which are crucial factors in IDR architecture planning.

Dataset Information

MetabolicMine: an integrated genomics, genetics and proteomics data warehouse for common metabolic disease research.

Publications

metabolicMine: an integrated genomics, genetics and proteomics data warehouse for common metabolic disease research.

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